Often, patients or their relatives are diagnosed with such a disease. nervous system like a side amyotrophic sclerosis(BASS). It is very rare, but quite severe and fatal. dangerous illnesses. As it develops, patients develop abnormalities that, as they progress, lead to death. But few people know what ALS is and what the symptoms of ALS are. The mechanism of development of this type of sclerosis occurs as a result of damage, and subsequently destruction of neurons that are responsible for motor system body. And it is almost impossible to survive. For this reason, you should become more familiar with the pathology.

This disease is also called Charcot's disease or motor neuron disease. ALS syndrome results in death when the respiratory muscles stop functioning. This happens after two to six years. According to statistical studies, lateral, or lateral, amyotrophic sclerosis leads to this result in about five years.

For what reasons does amyotrophic lateral sclerosis begin to develop? modern medicine cannot give an exact answer. Scientists have only yet established that the cause of the development of this disease lies in pathological disorders of DNA formation. A large amount of 4-stranded DNA appears in the body, and this factor disrupts protein synthesis. A mutation occurs in a protein called ubiquin, as well as in genes. How this factor affects motor neurons has not yet been established, which is why it is difficult to correctly diagnose ALS. In case of suspicion, the patient must be examined by several specialists.

Risk of disease

ALS disease begins to progress between 30 and 50 years of age. In approximately 5% of patients this occurs due to hereditary reasons. When diagnosing ALS, medicine does not name the cause, nor can it say exactly in which cases the first symptoms of the disease and the factors that cause them may appear.

Medical scientists also identify other factors that increase the likelihood of the disease occurring. For example, an increase in radical oxidation in the neurons themselves, as well as high activity of amino acids that have an exciting effect.

But some risk factors can still be named: infectious lesions brain, climatic conditions, traumatic brain injuries. Sometimes the disease is associated with eating food containing pesticides, but there is no scientific evidence for this.

Symptoms

Symptoms of amyotrophic lateral sclerosis are very specific, even with a basic initial examination. To find out clinical signs development of Charcot's disease, you need to have an accurate understanding of the motor neurons located in the central brain and on the periphery.

The central neuron is located inside cerebral hemispheres brain. When it is damaged, weakness of the muscle tissue in the body occurs, which is combined with increased muscle tone and increased reflexes. Strengthening of reflexes is established during examination by a neurologist by blows with a hammer.

The location of the peripheral neuron is the brain stem, as well as spinal cord. This pathology is also accompanied by a decrease in reflexes and muscle activity.

You should also take into account symptoms that signal disturbances in a system such as the vertebrobasilar system. Insufficiency in the VBB is observed due to decreased blood circulation in the arteries along the spine. This deviation is called vertebrobasilar insufficiency. And these pathologies develop in amyotrophic lateral sclerosis as symptoms.

Classification

BAS has the following forms:

• lumbosacral sclerosis;
• cervicothoracic disease;
• bulbar, which is a lesion of a peripheral neuron in the brain stem;
• affecting the central motor neuron.

At the same time, doctors distinguish between types of disease based on the speed of its progression and the strength of the symptoms manifested. The Mariana type of ALS is different in that the first signs appear early, but the disease progresses slowly. Classic (sporadic) is usually diagnosed in 95% of all patients. It is distinguished by an average rate of development of sclerosis and standard classical symptoms. Familial ALS is characterized by late onset and a hereditary pattern.

This division is based on determining the signs of damage to any neuron at the very beginning of the development of the disease. As pathological disorders progress, an increasing number of motor neurons become involved.

Common signs characteristic of any form of ALS are:

• dysfunction of the movement organs;
• absence of disturbances in the sensory organs;
• no problems with urination or defecation;
• progression of the disease and the capture of more and more areas of muscle tissue, sometimes to the point of complete immobility;
• periodic convulsions accompanied by severe pain.

Lumbosacral ALS

The lumbosacral disease ALS has two types of development:

1. The pathology begins to develop with damage to the peripheral neuron, which is localized in the lumbosacral region of the back brain. In this case, the patient shows signs of muscle weakness in one leg. Then the same symptoms appear in the muscles of the second, a decrease in tendon reflexes and tone in the muscle tissue of the legs is felt. Over time, signs of their “drying out” and twitching are observed. After some time, the muscle tissue of the arms is affected, which is manifested by a similar decrease in reflexes and atrophy. The next stage is damage to the bulbar group of neurons, which is expressed by deterioration of swallowing and blurred speech, nasality when speaking. Then it sags lower jaw, the chewing process worsens. At the same time, signs of fasciculation appear on the tongue.
2. In the initial stage of development of the disease, symptoms of damage to both motor neurons, which provide the ability to move the legs, can be traced. However, manifestations of muscle weakness in the legs are accompanied by their increased tone with atrophy and increased reflexes. After some time, abnormalities are detected first in the feet, and then in the hands. As the disease progresses, the swallowing process deteriorates, the tongue twitches, and speech is impaired. The patient often laughs or cries unnaturally.

Cervicothoracic ALS

It can proceed in two ways:

1. Damage to only a peripheral neuron, in which paresis and tissue atrophy are observed, first of one hand. After a month or two, the same symptoms appear in the tissues of the second. The hands become like a monkey's paw. Then the same symptoms are observed in the legs and other signs of the disease.
2. If simultaneous motor neuron lesions occur, both arms undergo atrophy at the same time, followed by the onset of other signs at an accelerated rate.

Bulbar type

With this form of ALS, symptoms of damage to a peripheral neuron in the brain stem begin to manifest themselves as impaired articulation, tickling while eating, nasal sound, and atrophy of the tongue muscles. As the disease progresses, the symptoms become more and more intense.

High type

This amyotrophic lateral sclerosis occurs with damage to the central neuron. At the same time, in addition to dysfunction of movements, there are mental disorders. They often manifest themselves in dementia, memory loss, etc. This form of the disease is the most dangerous.

All over the world, the diagnosis of ALS is made based on a combination of signs and examination results of the patient.

If the doctor suspects a patient has amyotrophic lateral sclerosis, he questions him in detail, listens to all complaints, and studies the medical history. This is followed by a neurological examination. In addition, for diagnostics you can use:

• electromyographic study;
• tests to determine the level of enzymes AlAT, AST;
• checking blood creatinine levels;
• study of liquor fluid;
• genetic tests.

Treatment

Unfortunately, amyotrophic lateral sclerosis is an incurable disease. Therefore, treatment of amyotrophic lateral sclerosis today comes down only to alleviating the patient’s condition.

So far, pharmacologists can offer only one medication that reliably prolongs the life of people with ALS. This medication is called Riluzole. It prevents the release of glutamate from the body, that is, it is a drug containing glutamic acid. It is prescribed in an amount of 100 mg per day. However, this medicine can only prolong life by a few months (and it can help in this only when the disease was diagnosed in the patient no more than five years ago). In addition, you need to remember that the product has side effect: It causes liver problems. Therefore, patients should undergo liver testing.

IN medical institutions many European countries patients diagnosed with ALS in last years They are trying to heal with the help of their own stem cells, which, according to research, slows down the development of pathology. Using stem cells transplanted into damaged areas of the brain, motor neurons are restored, providing the brain with sufficient oxygen. This procedure is performed on an outpatient basis and is called a lumbar puncture. Stem cells are injected into the cerebrospinal fluid.

All patients should receive symptomatic therapy to alleviate their condition, thereby reducing the need for nursing care.

For those with amyotrophic lateral sclerosis, treatment is needed in the following cases:

• if the patient has fasciculations and cramps (drugs should only be prescribed by a doctor, for example, Finlepsin, Liozeral, etc.);
• it is necessary to improve muscle and neural metabolism (you can use Berlition, Milgamma);
• if the patient has depression;
• with increased salivation;
• For painful cramps and joint pain, painkillers are prescribed.

But no treatment, no methods of prevention can prevent, cure and slow down the course of this type of sclerosis.

Amyotrophic lateral sclerosis syndrome requires the use of more than just drug therapy.

If the patient has problems with swallowing, he is transferred to eating ground food, using soufflés, and semi-liquid dishes. At the end of the meal, sanitization is carried out oral cavity. In cases of severe problems, percutaneous endoscopic gastrotomy is used, i.e., an operation that allows the patient to be fed through a tube.

To prevent thrombosis of the veins in the legs, the patient is recommended elastic bandages. When infections occur, antibiotics are prescribed. A special massage of the legs and then the arms is also useful.

The motor symptoms of amyotrophic lateral sclerosis can be slightly corrected with the help of orthopedic devices: shoes, a cane, and then a stroller, a head support, a functional bed. All this is necessary when the patient is diagnosed with ALS.

In ALS, the disease eventually leads to the patient needing a device for artificial ventilation lungs. This signals the imminent death of the patient. Artificial ventilation prolongs life for some time, although at the same time there is a prolongation of suffering. Treat the patient with at this stage no longer seems possible.

The diagnosis of ALS is a severe neurological disease. Patients with ALS have no hope of recovery and survival. Therefore, it is important to surround a sick relative with care and love, as well as make his life as easy as possible.

Amyotrophic lateral sclerosis: signs, forms, diagnosis, how to live with it?

Amyotrophic lateral or lateral sclerosis (ALS), called motor neuron disease or Charcot-Kozhevnikov, motor neuron disease, and in some places globe- Lou Gehrig's disease, which mainly affects regions speaking English language. Dear patients, in this regard, should not be surprised or doubt if in the text of our article they encounter various names this very bad pathological process, leading first to complete disability and then to death.

What is Motor Neurone Disease at a Glance?

The basis of this terrible disease are lesions of the brain stem, which do not stop in this area, but spread to the anterior horns of the spinal cord (the level of the cervical thickening) and pyramid paths, leading to degeneration of skeletal muscles. IN histological preparations cytoplasmic inclusions called Bunin bodies are detected, and against the background of vascular infiltrates, degeneratively changed, wrinkled and dead nerve cells are observed, in the place of which glial elements grow. It is obvious that the process, in addition to all parts of the brain and spinal cord (cerebellum, brainstem, cortex, subcortex, etc.), motor nuclei of the cranial nerves (cranial nerves), affects meninges, cerebral vessels and spinal vascular bed. During the autopsy, the pathologist notes that the cervical and lumbar thickening in patients is noticeably reduced in volume, and the trunk is completely atrophied.

If 20 years ago patients could barely live 4 years, in our time there has been an trend towards an increase in average life expectancy, which already reaches 5-7 years. The cerebral form still does not have longevity (3-4 years), and the bulbar form does not offer much of a chance (5-6 years). True, some live for 12 years, but mainly these are patients with the cervicothoracic form. However, what does this period mean if Charcot’s disease (sporadic forms) does not spare children (high school) and adolescence, while the male sex has a greater “chance” of acquiring motor neuron disease. Familial cases appear more often in adulthood. The real danger of getting sick remains between the ages of 40 and 60, but after 55 men no longer hold the lead and get sick just like women.

Bulbar disturbances in the activity of the centers responsible for respiratory function and work of cardio-vascular system.

In the literature you can find such a definition as “ALS syndrome”. This syndrome has nothing to do with motor neuron disease, is caused by completely different reasons and accompanies other diseases (some proteinemia, etc.), although the symptoms of ALS syndrome are very reminiscent of the early stage of Lou Gehrig’s disease, when the clinic has not yet developed rapidly. For the same reason initial stage Amyotrophic lateral sclerosis is differentiated from () or.

Video: lecture on ALS from the neurology educational program

The form is determined by the predominant symptoms

ALS has no boundaries in the patient human body, it moves further and thus affects the entire body of the patient, therefore the forms of amyotrophic lateral sclerosis are distinguished rather conditionally, based on the onset of the pathological process and more striking signs of damage. Exactly predominant symptoms during amyotrophic lateral sclerosis, and not isolated affected areas, allow us to determine its forms, which can be presented in the following form:

• Cervicothoracic, which first of all begins to be felt by the arms, the area of ​​the shoulder blades, and the entire shoulder girdle. It is very difficult for a person to control movements on which before the illness there was no need to even concentrate attention. Physiological reflexes increase, and pathological reflexes arise in parallel. Soon after the brushes stop obeying, it begins muscle atrophy hands (“monkey’s paw”), and the patient in this area is immobilized. Lower sections also do not remain on the sidelines and are drawn into pathological process;
• Lumbosacral. Like the arms, the lower extremities begin to suffer and muscle weakness appears. lower limbs, accompanied by twitching, often convulsions, then muscle atrophy occurs. Pathological reflexes (positive Babinsky's symptom, etc.) are among the diagnostic criteria, since they are observed already at the onset of the disease;
• Bulbar form– one of the most severe, which only in rare cases allows the patient to extend his life expectancy by more than 4 years. In addition to problems with speech (“nasality”) and uncontrollability of facial expressions, there are signs of difficulty swallowing, which turns into a complete inability to eat food on one’s own. The pathological process, covering the entire body of the patient, has a very negative effect on functional abilities respiratory and cardiovascular systems, therefore people with this form die before paresis and paralysis develop. There is no point in keeping such a patient on a ventilator (artificial lung ventilation) for a long time and feeding him with droppers and gastrostomy, since the percentage of hope for recovery in this form is practically reduced to zero;
• Cerebral, which is called high. It is known that everything comes from the head, so it is not surprising that in the cerebral form, both arms and legs are affected and atrophy. In addition, it is very common for a patient who has this option to cry or laugh for no reason. These actions, as a rule, are not related to his experiences and emotions. After all, if a patient cries in his condition, this can be understood, but he is unlikely to feel funny about his illness, so we can say that everything happens spontaneously, regardless of the person’s desire. In terms of severity, the cerebral form is practically not inferior to the bulbar form, which also rapidly leads to the death of the patient;
• Polyneurotic(poly means a lot). The form is manifested by multiple nerve lesions and muscle atrophy, paresis and paralysis of the limbs. Many authors do not distinguish it as a separate form, and in general, the classification of different countries or different authors may differ, which is nothing wrong, so you should not focus on this, besides, not a single source ignores the cerebral and bulbar forms.

The causes of the disease...

The factors that can trigger this severe pathological process are not so numerous, but a person can encounter any of them every day, regardless of age, gender and geographical location except, of course, hereditary predisposition, which is typical only for a certain part of the population (5-10%).

So, the causes of motor neuron disease:

1. Intoxication (any, but especially with substances chemical industry, where the main role is given to the influence of metals: aluminum, lead, mercury and manganese);
2. Infectious diseases caused by the activity of various viruses in the human body. Here, a special place belongs to a slow infection caused by a hitherto unidentified neurotropic virus;
3. Electrical injuries;
4. Lack of vitamins (hypovitaminosis);
5. Pregnancy can trigger motor neuron disease;
6. Malignant neoplasms (especially lung cancer);
7. Operations (removal of part of the stomach);
8. Genetically programmed predisposition (familial cases of motor neuron disease). The culprit of amyotrophic lateral sclerosis is a mutated gene located on chromosome 21, which is predominantly transmitted according to an autosomal dominant mode of inheritance, although in some cases an autosomal recessive variant also occurs, albeit to a lesser extent;
9. Unexplained reason.

...And its clinical manifestations

Symptoms of amyotrophic lateral sclerosis are characterized primarily by the appearance of peripheral and central paresis of the arms, as indicated by the following signs:

• Periosteal and tendon reflexes begin to show a tendency to increase;
• Atrophy of the muscles of the hands and scapular area;
• The emergence of pathological reflexes ( upper symptoms Rossolimo, which refers to pathological reflexes of the hand, positive symptom Babinsky, etc.);
• Foot clonus, increased Achilles and knee reflexes;
• The appearance of fibrillary twitching of the muscles of the shoulder girdle, and, in addition, the muscles of the lips and tongue, which can be easily noticed if you hit the muscle in the affected area with a neurologist’s hammer;
• The formation of bulbar paralysis, which is manifested by choking, dysarthria, hoarseness, drooping jaw (lower, of course), excessive salivation;
• With motor neuron disease, the human psyche practically does not suffer, but it is unlikely that such a severe pathology will not in any way affect the mood and will not affect the emotional background. As a rule, patients in similar situations fall into deep depression, because they already know something about their disease, and their condition tells them a lot;

It is obvious that involving the entire body in the process, Charcot's disease gives rich and diverse symptoms, which, however, can be briefly represented by syndromes:

1. Flaccid and spastic paralysis of the arms and legs;
2. Muscle atrophy with the presence of:
   a) fibrillary twitching caused by irritation of the anterior horns of the spinal cord, leading to excitation of some (individual) muscle fibers;
   b) fascial twitching, caused by the movement of a whole bundle of muscles and arising from irritation of the roots;
3. Bulbar syndrome.

The main diagnostic criteria are reflexes and ENMG

As for diagnostics, it relies primarily on neurological status, and the main instrumental method for searching for ALS is ENMG (electroneuromyography), the rest of the testing is carried out to exclude diseases with similar symptoms or to study the patient’s body, in particular, the state of the respiratory system and musculoskeletal system. Thus, the list necessary research includes:

• General clinical (traditional) tests (general blood and urine tests);
• BAC (biochemistry);
• Spinal puncture (rather to exclude multiple sclerosis, since in Charcot's disease there are no changes in the cerebrospinal fluid);
• Muscle biopsy;
• R-graphic examination;
• MRI to detect or exclude organic lesions;
• Spirogram (function study external respiration), which is very important for such patients, given that with amyotrophic lateral sclerosis, respiratory function often suffers.

To maintain and prolong life

Therapy for motor neuron disease is primarily aimed at general strengthening, maintaining the body and relieving symptoms. As the pathological process develops, respiratory failure increases, so the patient, in order to improve respiratory activity, first (while still in wheelchair) switches to a NIV device (for non-invasive ventilation of the lungs), and then, when this too can no longer cope, to stationary ventilator equipment.

For real effective remedy has not yet been invented for the treatment of amyotrophic lateral sclerosis, however, treatment is still necessary and the patient is prescribed drug therapy:

1. Rilutek (riluzole) is the only targeted drug. Just a little (about a month) prolongs life and allows you to lengthen the time before transferring the patient to mechanical ventilation;
2. To improve speech and swallowing, anticholinesterase drugs (galantamine, proserine) are used;
3. Elenium, sibazon (diazepam), muscle relaxants help relieve spasms;
4. For depression and sleep disorders - tranquilizers, antidepressants and sleeping pills;
5. When infectious complications held antibacterial therapy(antibiotics);
6. For pain, NSAIDs (non-steroidal anti-inflammatory drugs) and analgesics are used, and subsequently the patient is transferred to narcotic painkillers;
7. Amitriptyline is prescribed to reduce salivation;
8. The treatment usually also includes B vitamins, anabolic steroids that help increase muscle mass (retabolil), nootropic drugs(piracetam, cerebrolysin, nootropil).

Good care improves quality of life

One can hardly argue with the statement that a patient with Charcot's disease needs special care. It’s special, because feeding alone is worth it. What about the fight against bedsores? What about depression? The patient is critical of his condition, is very worried that every day his condition is worsening and, ultimately, he stops (not of his own free will) to take care of himself, cannot communicate with others and enjoy a delicious dinner.

Such a patient needs:

• In a functional bed equipped with a lift,
• In a chair with equipment that replaces a toilet;
• In a wheelchair controlled by buttons that the patient can still handle;
• In communication tools, for which a laptop is best suited.

Prevention of bedsores is very important. In such cases, they do not keep themselves waiting long, so the bed should be clean and dry, as well as the patient’s body.

The patient eats mainly liquid, easily swallowed food, rich in proteins and vitamins (as long as swallowing function is preserved). Subsequently, the patient is fed through a tube, and then they resort to a forced, but last measure - the imposition of gastrostomies.

It is obvious that a patient with amyotrophic lateral sclerosis suffers greatly: both morally and physically. At the same time, the people caring for him, for whom he is a close person, also suffer. Agree, it is very difficult to look into fading eyes, see pain and despair and not be able to help defeat the disease, cure it, bring a loved one back to life. Relatives caring for such a patient lose strength and often fall into despondency and depression, and therefore they also need the help of a psychotherapist with the prescription of sedatives and antidepressants.

Usually, in a description of the treatment of any disease, readers look for preventative measures and ways to get rid of a particular ailment folk remedies. In fact, recommended by alternative medicine, containing large amounts of B vitamins, sprouted wheat and oat grains, walnuts and propolis may not harm the patient, but they will not cure him either. In addition, we should not forget that such people often have problems with swallowing, so in the case of Charcot's disease on traditional medicine You shouldn't rely on it.

This is what it is - amyotrophic lateral sclerosis (and many other names for it). The disease is terribly insidious, incomprehensible and incurable. Maybe someday a person will be able to tame this disease, at least let's hope for the best, because scientists all over the world are working on this problem.

Video: ALS in the program “Live Healthy!”

Amyotrophic lateral sclerosis is a serious neurological disease that causes muscle weakness, disability and ultimately death. ALS is often called Lou Gehrig's disease, after the famous baseball player who was diagnosed in 1939. In some countries, ALS and motor neurone disease are sometimes used interchangeably.

Worldwide, ALS affects 1-3 people per 100,000. In the vast majority of cases - from 90 to 95 percent of cases of this disease, doctors cannot explain the cause of this disease. Only in 5-10 percent of cases is genetic determination traced. ALS often begins with muscle cramps in an arm or leg and difficulty speaking. Ultimately, ALS disrupts control of the muscles responsible for the breathing movements of swallowing.

Symptoms

Early symptoms of ALS include:

• Difficulty lifting the forefoot and toes (foot drop)
• Muscle weakness in the leg, foot, or ankle
• Weakness in the arms and impaired fine motor skills of the hands
• Speech problems or swallowing problems
• Muscle cramps and twitching (fibrillations) in the arms, shoulders and tongue

The disease often begins in the arms, legs, or limbs and then spreads to other parts of the body. With the onset of the disease, symptoms begin to progress, the muscles become weaker and then paralysis occurs. Ultimately, there is a violation of the acts of chewing, swallowing and breathing.

Causes

With amyotrophic lateral sclerosis, the nerve cells that control movement (motor neurons) begin to gradually die, which leads to a gradual weakening of the muscles and their atrophy. ALS is inherited in 5-10 percent of cases. In other cases, ALS appears to occur spontaneously.
Several possible causes of ALS are currently being studied, including:

• Gene mutation. Various genetic mutations can lead to hereditary forms of ALS.
• Biochemical disorders. In patients with ALS, as a rule, there is increased level glutamate (a chemical neurotransmitter of the nervous system). As is known increased amount this neurotransmitter has toxic effect on some nerve cells.
• Impaired immune response. Sometimes the immune system a person begins to perceive his own cells as foreign and attacks them, which leads to the development of autoimmune reactions and damage to target cells. Such a mechanism for the occurrence of ALS is also possible.
• Presence of abnormal proteins. The production of abnormal proteins and their subsequent accumulation ultimately causes death nerve cells.

Risk factors

Major risk factors for ALS include:

• Heredity. Up to 10 percent of patients inherit this disease from their parents. If parents have this disease, then the risk in children is 50%.
• Age. ALS is most common in people between the ages of 40 and 60.
• Floor. Under the age of 65, the risk of this disease is higher in men. Gender difference disappears after 70 years. It is possible that ALS, like other diseases, is caused by a specific combination of factors environment in people who already have genetic predisposition to this disease. For example, some studies of the human genome have identified numerous genetic variations common in ALS patients that may make a person more susceptible to the disease.

Environmental factors that increase the risk of this disease include:

• Smoking. As it turns out, statistics indicate that amyotrophic lateral sclerosis occurs 2 times more often in smokers than in non-smokers. The longer the smoking history, the greater the risk. On the other hand, quitting smoking may ultimately reduce this increased risk.
• Lead intoxication. Some evidence suggests that exposure to lead during work in hazardous occupations may be associated with the development of ALS.
• Military service. Recent research shows that people who served in the military are at higher risk of developing amyotrophic lateral sclerosis. What exactly is the provoking factor in people during military service (injury, physical activity, infection or exposure to harmful substances) is not known.

Complications

As the disease progresses, patients with amyotrophic lateral sclerosis experience the following complications.

• Breathing problems. ALS ultimately paralyzes the muscles involved in breathing. To combat these disorders, devices are used that are used only at night in order to prevent sleep apnea (they create constant positive pressure in the respiratory tract). In the terminal stages of ALS, a tracheotomy (a surgically created hole in the larynx) is used to provide connection to ventilators that carry out breathing.
  The most common cause of death in patients with ALS is respiratory failure, which usually develops within three to five years after the first symptoms appear.
• Eating disorders. When the muscles responsible for swallowing are involved in the process, malnutrition and dehydration occur. There is also an increased risk of aspiration of food fluids, which can cause pneumonia. Tube feeding reduces the risk of such complications
• Intellectual impairment. Some patients with ALS have problems with memory and decision making and are eventually diagnosed with frontotemporal dementia.

Diagnostics

If some of the early symptoms of neuromuscular diseases appear, you should contact your doctor, who, if necessary, will refer you for a consultation with a neurologist. But even a timely visit to a neurologist does not guarantee that the diagnosis will be made immediately, since it takes some time to verify the diagnosis. The neurologist will be interested in the medical history and neurological status.

• Reflexes
• Muscle strength
• Muscle tone
• touch and vision
• Coordination

Amyotrophic lateral sclerosis is quite difficult to diagnose in the early stages, since the symptoms are similar to other neurological diseases. From diagnostic methods the following are used:

• Electroneuromyography. This method allows you to measure electrical potentials in muscles and impulse conduction along nerve fibers and muscles. For myography, needle electrodes are inserted into the muscle, which makes it possible to record electrical activity in the muscles, both at rest and during muscle contraction. Electroneurography allows you to study conduction along nerve fibers. For this test, electrodes are attached to the skin over the nerve or muscle that is being tested. A small amount is passed through the electrodes electricity and the speed of impulse conduction is determined.
• MRI. This method uses a powerful magnetic field and allows detailed visualization of various tissues, including nervous tissue.
• Blood and urine tests. Laboratory analysis blood and urine samples can help the doctor rule out others possible reasons symptoms.
• Muscle biopsy. If there is a suspicion of a muscle disease, a muscle biopsy may be prescribed. During this procedure, a piece of muscle tissue is removed and performed under local anesthesia. The tissue sample is then sent for testing.

Treatment

Due to the fact that the processes in amyotrophic lateral sclerosis cannot be reversed, treatment is aimed at slowing the progression of symptoms.

Drug treatment. The drug riluzole (RILUTEK) is the first and only drug approved to slow ALS. The drug has an inhibitory effect on the progression of the disease in some patients, possibly by reducing the level of glutamate, a substance that is a mediator in the nervous system and the level of which is often elevated in patients with ALS. In addition, other medications may be prescribed to relieve symptoms such as constipation. muscle cramps fatigue hypersalivation pain depression.

Exercise therapy. Physical exercise under the supervision of a physical therapy doctor allows you to maintain muscle strength and range of motion for a longer period, the activity of the cardiovascular system and improve overall well-being.

Using a walker or wheelchair also allows you to maintain a certain range of motion.

Psychological help. The help of a psychologist is often required due to the patient’s awareness of the incurability of the disease. Although in some cases life expectancy can exceed 3-5 years and reach 10 years.

One of the rare and extremely dangerous diseases for human health and life is amyotrophic lateral sclerosis. This is a pathology of the nervous system in which motor neurons of the spinal cord, as well as the cortex and brain stem, undergo irreversible changes. The disease is chronic and characterized by constant progression. The pathological process is not very common: approximately 4-6 cases of the disease are recorded per 100,000 people.

General deviation data

Amyotrophic lateral sclerosis (ALS) is a disorder in the functioning of the nervous system that provokes constantly progressive muscle weakness that occurs in conditions of selective damage to motor neurons. The pathology has several other names, for example, Lou Gehrig's disease, named after the world champion baseball player who suffered from this disorder. Another name for amyotrophic lateral sclerosis is Charcot's disease. It is associated with the name of the French psychiatrist Jean-Martin Charcot, who described pathological muscle weakness in the second half of the 19th century.

Finally, ALS is known as motor neuron disease according to ICD-10.

Sometimes, when describing this pathological condition, the word “lateral” is replaced by the epithet “lateral”. The inclusion of this adjective in the name of the disease is due to the fact that the neurons located in the lateral projections of the spinal cord are most susceptible to changes.

Pathological changes associated with muscle weakening and atrophy are caused by the destruction of neurons that are responsible for transmitting signals from the brain to the muscles. With this disease, both central and peripheral motor neurons can be affected. The first of them is located in the cerebral cortex. When it is damaged, muscle weakness develops, while tone increases and reflexes become stronger. The peripheral motor neuron is found in the brainstem and at various levels of the spinal cord. If it undergoes pathological changes, then the development of muscle weakness is observed, but at the same time reflexes decrease, as does muscle tone, as well as the development of muscle atrophy.

In conditions of damage to one of the motor neurons (or both at once), the transmission of impulses from it to the muscle is blocked.

Amyotrophic lateral sclerosis manifests itself in increasing muscle weakness and muscle wasting, which, as a result of its chronic course, leads to complete immobility of the patient and impaired respiratory functions.

On this moment There are approximately 70,000 people worldwide diagnosed with ALS. Usually this pathology manifests itself after the age of 40-50 years. According to clinical data, it usually leads to death within 5 years after diagnosis. However, the famous physicist Stephen Hawking has been living with this disease for 50 years.

Only 7% of all patients live more than 60 months.

It has been established that men suffer from Charcot's disease more often than women. Recently, scientists have suggested that greatest number cases of pathology are recorded in people with high intelligence and athletes who have not had serious health problems throughout their lives.

Reasons for the development of the pathological process

Amyotrophic lateral sclerosis became known to medicine not too long ago, and the main cause of this disease is still not clear. However, researchers agree that it is based on the accumulation of pathological insoluble protein in the motor cells of the nervous system. This is what leads to their death.

There is a theory according to which the leading role of development irreversible changes belongs to a change in the properties of a special enzyme, the function of which is to protect the body’s cells from destruction by oxygen radicals. This enzyme is called superoxide dismutase-1. Such changes are associated with gene mutations, which in 25% of cases are inherited. It is this fact that determines the hypothesis about the genetic nature of ALS.

It is possible that the destruction of motor neurons is associated with mutations in other structures, for example, formations that give the nerve cell its shape and provide its framework.

When describing the nature of amyotrophic lateral sclerosis, they mention following reasons its development:

1. Gene mutations that are inherited;
2. Autoimmune reactions, in which the body’s nerve cells are attacked by the immune system;
3. The body produces abnormal proteins that accumulate and cause the death of motor neurons;

Hosts of the program “Live Healthy!” will talk about incurable disease more details:

1. The accumulation of glutamic acid in the body, which occurs when biochemical processes in the body are disrupted and promotes the penetration of calcium into neurons. As a result of this process, a large number of free radicals are formed that destroy motor neurons;
2. Viral damage to nerve cells;
3. Negative effects of lead and agricultural pesticides on the body.

Doctors include the following risk factors:

• Professional activity of a person that involves contact with lead or other substances that cause intoxication;
• Hereditary predisposition;
• Age-related changes occurring in the body;
• Smoking (experienced smokers are at particular risk);
• Male gender.

Amyotrophic lateral sclerosis is not an infectious disease and cannot be contracted from another person.

Main forms of the disease

Motor neuron disease is classified into types based on the severity of damage to nerve cells. The manifestations of each of them are basically similar, but as the pathological process develops, the difference becomes more obvious.

In neurology, the following forms of the disease are distinguished:

1. Actually amyotrophic lateral sclerosis. This name refers to simultaneous damage to neurons in the brain and spinal cord. The disease is characterized general weakness, a feeling of increased fatigue in the limbs, which intensifies even more when walking or trying to hold an object in your hand. Average duration the lifespan of patients with a similar diagnosis ranges from 2 to 5 years;
2. Progressive bulbar palsy. Distinctive feature of this form is the involvement of the sublingual and glossopharyngeal nerve, due to which the swallowing processes, as well as speech, are disrupted. Answering the question about how long do patients with progressive bulbar palsy, experts note that this period is short: from six months to 3 years;

The photo shows progressive bulbar palsy

1. Primary lateral sclerosis. This is a very rare form of pathology in which only the motor neurons of the brain are affected. It is expressed in a feeling of weakness in the lower extremities, sometimes in awkward hand movements or problems with speech. Similar condition does not reduce life expectancy, but there is always a risk of the disease transitioning from the form of primary lateral sclerosis to ALS;
2. Progressive muscular atrophy. In this case, damage to the motor neurons of the spinal cord occurs and their gradual death. The muscles become increasingly weaker and decrease in volume, which affects motor ability. The average life expectancy is from 5 to 10 years.

The progression of amyotrophic lateral sclerosis causes complications that lead to the death of the patient. These should include:

• Breathing disorders. Progressive muscle weakness eventually leads to paralysis of the muscles that are involved in the breathing process. It is this complication that in most cases leads to death;
• Difficulty eating. If ALS occurs with the involvement of muscles involved in the swallowing process in the pathological process, there is a risk of aspiration, which can lead to pneumonia, as well as malnutrition and dehydration;
• Intellectual impairments (problems with memory, ability to make decisions). Dementia develops very rarely.

The disease begins with damage to the limbs, which then spreads to the rest of the body.

Clinical picture

Early symptoms of amyotrophic lateral sclerosis are:

1. Muscle cramps;
2. Jerking upper limbs, tongue, shoulders;
3. Feeling of weakness in the lower extremities, foot, or ankle;

Dear readers, about the main causes and symptoms of the disease, watch the video below:

1. Difficulty lifting the forefoot or toes of the lower extremity;
2. Speech disorders;
3. Difficulty swallowing.

As amyotrophic lateral sclerosis progresses, the patient notices muscle stiffness, which is associated with an increase in their tone and difficulty in trying to relax them. There are also such characteristic features, such as imbalance, spontaneous bouts of laughter or crying, limited tongue movements, change in voice.

For more late stages the disease causes interruptions in breathing, depression, and inability to move independently.

Diagnostic measures

Diagnosis of amyotrophic lateral sclerosis requires a large number of specific measures. First of all, the patient is examined and interviewed by a neurologist who is interested in the following information:

• Intensity of reflexes;
• State of coordination;
• Functionality of vision and touch;
• State of muscle tone and muscle strength.

Other methods that allow you to make a correct diagnosis include:

1. Blood tests to refute others probable reasons, which provoked the appearance of atypical symptoms;
2. MRI, with the help of which nervous tissue is visualized and sufficient information about its condition is obtained. The technique also confirms or excludes the presence of organic lesions;

The procedure for performing a lumbar puncture involves piercing the arachnoid membrane of the spinal cord between the 3rd and 4th, or 2nd and 3rd lumbar vertebrae with a Beer needle to collect cerebrospinal fluid.

1. Spinal tap . Examination of the cerebrospinal fluid allows us to exclude the possibility of multiple sclerosis in the patient;
2. Electroneuromyography. Using this procedure, electrical potentials in muscles are measured, and impulse conduction through nerve fibers and muscles is also examined;
3. Muscle biopsy. A fragment of muscle tissue is collected if there is a suspicion of a muscle disease.

In addition to the listed methods, it is imperative to carry out differential diagnosis. Amyotrophic lateral sclerosis must be distinguished from pathologies such as spinal cord tumor, cervical myelopathy, malabsorption syndrome, and diabetic amyotrophy.

Is there a cure for ALS?

Treatment of amyotrophic lateral sclerosis aims to slow down the progression of the pathological process, since the changes that occur are irreversible. The disease cannot be cured.

The main and only drug currently recommended to slow the progression of the disease is Riluzole, or Rilutek. Its main active substance prevents further damage to neurons, thus slowing the progression of the disease.

Other drugs are used solely to relieve prevailing symptoms that impair the patient's quality of life. These should include:

• Antibacterial drugs (in case of infection);
• Antidepressants and sleeping pills, necessary for severe depression and sleep disorders;
• Anabolic steroids, which increase muscle mass;

Different types of action of muscle relaxants

• Means to reduce the intensity of salivation;
• Non-steroidal anti-inflammatory drugs, which can reduce the intensity of pain;
• Muscle relaxants to relieve spasms.

A patient diagnosed with ALS requires devices that allow him to move (wheelchair, walker, bed with various functions, in particular, equipped with a lift). In order for the patient to be able to breathe, a special operation can be performed - tracheostomy. During manipulation in the trachea surgically create a hole.

The patient must be provided with full care. Special attention measures should be taken to prevent the formation of bedsores. The bed should always be dry and clean, as should the patient’s body.

Another integral component of maintenance therapy for amyotrophic lateral sclerosis is working with a psychologist. The help of a specialist will be needed not only by the patient, but also by his family members.

Due to disability due to ALS, the patient is required to use a wheelchair

Forecast for this specific disease disappointing. The disease is constantly progressing, increasingly worsening the patient’s quality of life and ultimately leading to acute respiratory failure and death of the patient. Depending on the form in which the pathological process occurs, the patient can live from 2 to 12 years. With the bulbar form, as well as if the patient is elderly, life expectancy is reduced to 1-3 years.

Amyotrophic lateral sclerosis – rare disease, which constantly progresses and inevitably leads to the death of the patient. The reasons for this phenomenon have not been fully studied; there are only assumptions regarding probable factors risk. Treatment of ALS comes down to alleviating the patient’s condition and providing him with the most comfortable living conditions.

A neurodegenerative disease that is accompanied by the death of central and peripheral motor neurons. The main manifestations of the disease are skeletal muscle atrophy, fasciculations, spasticity, hyperreflexia, pathological pyramidal signs in the absence of pelvic and oculomotor disorders. It is characterized by a steadily progressive course, leading to death. Amyotrophic lateral sclerosis is diagnosed based on neurological status, ENG, EMG, MRI of the spine and brain, cerebrospinal fluid analysis and genetic studies. Unfortunately, today medicine does not have effective pathogenetic therapy for ALS.

If amyotrophic lateral sclerosis is suspected, it is necessary to: collect anamnesis (both personal and family); physical and neurological examination; instrumental examinations(EMG, MRI of the brain); laboratory research(general and biochemical analysis blood); serological tests (antibodies to HIV, Wasserman reaction, etc.); cerebrospinal fluid examination; molecular genetic analysis (mutations in the superoxide dismutase-1 gene).

When collecting anamnesis, it is necessary to pay attention to the patient’s complaints of stiffness and/or weakness in certain muscle groups, muscle twitching and spasms, weight loss of certain muscles, episodes of acute lack of air, speech disorders, salivation, swallowing, shortness of breath (with physical activity and in the absence of it), a feeling of dissatisfaction with sleep, general fatigue. In addition, it is necessary to clarify the presence (or absence) of double vision, chills, and memory impairment.

Neurological evaluation for suspected amyotrophic lateral sclerosis should include random neuropsychological testing; assessment of cranial innervation, testing of the mandibular reflex; assessment of bulbar functions; strength of the sternomastoid and trapezius muscles; assessment of muscle tone (according to the British Medical Research Council scale), as well as the severity motor disorders(according to the Ashforth scale). In addition, it is necessary to study pathological reflexes and coordination tests (static and dynamic).

Attempts at pathogenetic therapy of amyotrophic lateral sclerosis with other drugs (including anticonvulsants, metabolic agents, antiparkinsonian drugs, antioxidants, blockers calcium channels, immunomodulators) were unsuccessful.

The goal of palliative therapy is to stop the progression of the main symptoms of amyotrophic lateral sclerosis - dysphagia, dysarthria, fasciculations, spasticity, depression. To improve muscle metabolism, it is recommended to prescribe carnitine, levocarnitine, and creatine in courses of 2 months three times a year. To make walking easier, patients are recommended to use orthopedic shoes, walkers, and a cane, and for deep vein thrombosis of the lower extremities, bandaging the legs with elastic bandages is recommended.

Dysphagia is a fatal symptom of amyotrophic lateral sclerosis, leading to cachexia. First, frequent sanitation of the oral cavity is carried out, then the consistency of the food is changed. At the same time, at the very early stages of the development of dysphagia, it is necessary to have a conversation with the patient, explaining to him the need for endoscopic gastrotomy, focusing on the fact that it will improve his condition and prolong his life.

The need for tracheostomy and mechanical ventilation is a signal of imminent fatal outcome. Arguments against mechanical ventilation may include the improbability of subsequent removal of the patient from the device, the high cost of caring for such a patient, technical difficulties, as well as post-resuscitation complications (pneumonia, post-hypoxic encephalopathy, etc.). The arguments for mechanical ventilation are the patient’s desire to prolong his life.

Forecast

With amyotrophic lateral sclerosis, the prognosis is always unfavorable. An exception may be hereditary cases of ALS associated with certain mutations in the superoxide dismutase-1 gene. The duration of the disease in the lumbar onset is about 2.5 years, in the bulbar onset - about 3.5 years. No more than 7% of patients diagnosed with ALS live more than 5 years.